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Biomedical subjects

J Willemse

Publications and source records attributed to J Willemse.

72 records · Page 4Linked to original sources
PubMed1977

[Fucosidosis].

Explore the source record for details and available documents.

Fabry Disease↗
PubMed1977

Prochlorperazine in childhood: side-effects.

The side-effects of prochlorperazine (CompazineR StemetilR) were traced in thirty-six children up to the age of sixteen years and compared with those collected from literature. These side-effects appeared to be predominantly neurological and were independent of the dosage. Impaired consciousness, dyskinesia, pyramidal signs and hypertonus were the main neurological manifestations. Dyskinesia was the most frequent sign. These side-effects disappear spontaneously after discontinuation of the drug. Instant cure can be acquired by intra-muscular administration of orphenadrine (DisipalR).

Adolescent↗
PubMed1977

Fucosidosis. II. Ultrastructure.

The ultrastructural changes of a sural nerve biopsy, liver biopsy and the autopsy of a case (I) of fucosidosis are described. Light microscopy revealed the presence of foam cells in various organs. The contents of the vacuoles stained positive with P.A.S. and Sudan. Electron microscopical examination showed inclusions in hepatocytes, Schwann cells and neurons. These inclusions had a single limiting membrane and contained heterogeneous structures, vesicular, multivesicular and membrane like structures, forming concentric lamellae. In another patient (case III) with a different clinical presentation and a different enzyme pattern (a reduced alpha-L-fucosidase activity, in combination with a reduced arylsulfatase A activity) similar abnormalities as in case I were found in a sural nerve and liver biopsy. It is suggested that the combined reduction of enzyme activity is responsible for the disease.

Autopsy↗
PubMed1976

Hypertensive encephalopathy in childhood. Diagnostic problems.

Oppenheimer and Fischberg's vasoconstriction-hypothesis on the pathogenesis of hypertensive encephalopathy was subsequently supported by animal experiments. Later on the role of decompensation of the autoregulatory mechanism of the cerebral blood flow was revealed. The transient symptomatology comprises headache, seizures, focal cerebral symptoms (hemiplegia etc.), visual disturbances, mental disorders, papiledema etc. The age-dependency of the influence of edema is probably expressed by the predominance of seizures in childhood and the long duration of the symptoms in our third and fourth patient. The differentiation between hypertensive encephalopathy and a local complication of hypertension (hemorrhage) can be difficult, not at least because the first disturbance may be followed by the second (patient 3). Hypertension is not always present as initial symptom (patient 1 and 2). Hence a series of blood pressure readings is required in acute cerebral incidents in childhood. Steroid-treatment may lead, especially in patients suffering from a hypocomplementemic form of membranoproliferative glomerulonephritis, to a sudden rise of the blood pressure and subsequently to hypertensive encephalopathy (patients 2 and 3). Hypertensive encephalopathy is a neuropediatric emergency. The urgent treatment with dioxaside, fursemide and sodium nitroprusside is shortly reviewed.

Adolescent↗
PubMedDate not supplied

Role of MRI scanning in the diagnosis of cerebral visual disturbance.

Visual dysfunction as part of cerebral palsy may be due to lesions of the retrochiasmatic visual pathways. Cranial computed tomography can reveal conspicuous and characteristic abnormalities in most patients presenting with the condition; however, in some patients the abnormalities may appear so subtle on computed tomography that they can be easily overlooked or their true significance questioned. Magnetic resonance imaging has proved to be of great value in demonstrating the neuroanatomic anomalies underlying the visual handicap of this latter group of patients, allowing for early diagnosis and precise management.

Adult↗
PubMedDate not supplied

Comparison of skull circumference and linear measurements with CSF volume MR measurements in hydrocephalus.

In children with hydrocephalus, accurate and reproducible estimation of the presence, severity, and course of the condition is of paramount importance for both clinical and scientific purposes. In this study, 30 hydrocephalic patients were assessed with a number of commonly used methods, such as occipitofrontal skull circumference (SC) measurements, Evans ratio (ER), and bicaudate index (BCI), as well as, for comparison, another ratio of linear measurements [ventricle-skull ratio (VSR)] and MR measurements of total intracranial CSF volume. In repeated CSF volume measurements in healthy volunteers, the MR method appeared to be accurate and reproducible. This technique was simpler and easier in application, requiring less interaction than comparable MR techniques described by others. The variation coefficients were within the same range. In increased CSF volumes, our technique can be recommended; in very small CSF volumes, another technique is more adequate. Direct assessment of CSF volume as a measure of hydrocephalus was preferable over derived estimations for scientific purposes and may function as a gold standard against which to evaluate other techniques that are easier to apply clinically. In comparison, SC measurements were poor; CSF volume changes were not reflected in SC changes. VSR was preferable over ER and BCI, because it correlated more closely with CSF volume.

Cerebrospinal Fluid↗
PubMedDate not supplied

Muscle weakness and congenital contractures in a case of congenital myasthenia.

A case of nonautoimmune, prenatal-onset, congenital myasthenia with congenital contractures including camptodactyly is presented. The clinical features re identical to those in three previously reported cases. In this form of congenital myasthenia, the muscle weakness and congenital contractures may resolve completely after conservative treatment, including anticholinesterase medication. Diagnosis can be made by the characteristic clinical history, neurological assessment, and electromyography with repetitive nerve stimulation.

Contracture↗
PubMedDate not supplied

Impact of cerebral visual impairment on the everyday life of cerebral palsied children.

A group of 43 patients suffering from cerebral palsy and cerebral visual impairment was compared with a group of 24 cerebral palsy patients with normal visual acuity, with regard to a functional level in daily life. Four categories were considered: communication, emotional contact, self-care and intelligence. Cerebral visual impairment-cerebral palsy patients scored significantly lower in all categories than cerebral palsy patients with normal visual acuity. In the cerebral visual impairment-cerebral palsy group, there was a higher frequency of tetraplegia compared with the group with normal acuity, but even after this predominance had been excluded, a significant difference remained. When dealing with cerebral palsy patients, occurrence of cerebral visual impairment must be taken into account. By initiating intervention programmes, one can prevent extra handicaps due to the consequences of diminished visual acuity.

Activities of Daily Living↗
PubMedDate not supplied

Identical morphology of the rolandic spike-and-wave complex in different clinical entities.

The morphology of the rolandic spike, the trough between the rolandic spike and the following slow wave, and of the slow wave itself was quantitatively studied in 43 children, classified into five clinical groups: (a) functional with epilepsy benign focal epilepsy of childhood with centrotemporal spikes (BECT) with oropharyngeal seizures or (b) BECT with unilateral or generalized seizures or (c) functional without epilepsy, and (d) organic with or (e) without epilepsy. The morphologic features of the rolandic spike-and-wave complex were identical in the five clinical categories. Thus, a quantitative description of the rolandic spike-and-wave complex can be given that is valid for the 43 children of the present study, although they represent a heterogeneity of associated clinical syndromes. The rolandic spike appeared to be not a spike but a sharp wave with a mean duration of 88 ms. In contrast to the opinion of several investigators, the morphology of the rolandic spike does not provide a clue to its "epileptogenicity" or to the presence or absence of an organic cerebral lesion in the individual child. In clinical practice, additional information (background activity of the EEG, computed tomography (CT) scan, or magnetic resonance imaging (MRI) of the brain) is needed to determine the significance of rolandic spikes occurring in the EEG of a child with respect to the probability of a cerebral lesion and the prognosis in relation to epileptic seizures.

Adolescent↗